Skip to content
Use your HSA or FSA funds

Condition report · Immunological

MTHFD1 Deficiency

A rare inherited disorder of folate metabolism causing a weakened immune system and a type of anaemia with large red blood cells. It is caused by changes in both copies of the MTHFD1 gene.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The condition we analyse

Combined Immunodeficiency and Megaloblastic Anaemia (MTHFD1)

Autosomal recessive

Caused by changes in both copies of MTHFD1, which encodes an enzyme that processes folate for making DNA building blocks and for recycling homocysteine. Reduced enzyme activity is thought to cause genome instability, which may underlie the blood and immune problems.

Signs and symptoms

Megaloblastic anaemia and combined immunodeficiency, with lymphopenia and poor response to vaccines, have been reported. Atypical haemolytic uraemic syndrome and neurological abnormalities have also been reported.

What a diagnosis changes

Treatment with folinic acid and hydroxocobalamin has improved blood and immune problems in reported cases, and infection prevention may still be needed. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.

Genes analysed

Also known as

CIMAH

MONDO:0060611OMIM 617780Orphanet 658813MedGen 1615364Sources: [1][2][3]

References

  1. Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ et al., 2013. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics
  2. Ramakrishnan KA, Pengelly RJ, Gao Y, Morgan M, Patel SV, Davies EG et al., 2017. Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. The journal of allergy and clinical immunology. In practice
  3. Field MS, Kamynina E, Stover PJ, 2017. MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability. Biochimie

Other immunological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium